Canonical Allele Identifier: CA4182613

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359675
• ClinVar RCV Id: RCV000331271 ; RCV002480244
• dbSNP Id: rs528354205
• ExAC: 7:21893952 A / T
• gnomAD v2: 7-21893952-A-T
• gnomAD v3: 7-21854334-A-T
• gnomAD v4: 7-21854334-A-T
• MyVariant Identifiers: chr7:g.21893952A>T (hg19) ; chr7:g.21854334A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21854334A>T , CM000669.2:g.21854334A>T	GRCh38
NC_000007.13:g.21893952A>T , CM000669.1:g.21893952A>T	GRCh37
NC_000007.12:g.21860477A>T	NCBI36
NG_012886.2:g.316120A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.11081A>T MANE Select	ENSP00000475939.1:p.Asn3694Ile
ENST00000328843.10:c.11102A>T	ENSP00000330671.7:p.Asn3701Ile
ENST00000409508.7:c.11081A>T	ENSP00000475939.1:p.Asn3694Ile
ENST00000421290.1:n.264A>T
ENST00000607413.5:n.344A>T
ENST00000620169.4:c.11102A>T	ENSP00000481693.1:p.Asn3701Ile
NM_001277115.1:c.11081A>T	NP_001264044.1:p.Asn3694Ile
NM_001277115.2:c.11081A>T MANE Select	NP_001264044.1:p.Asn3694Ile